A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1848598



Internal ID17531104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:45895178..45902056hg38UCSC Ensembl
Innerchr10:51693770..51700648hg19UCSC Ensembl
Innerchr10:51363776..51370654hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg386879
hg196879
hg186879
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv947997
Supporting Variants
SamplesHGDP01307
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1848598
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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